Tan Ene-choo, Wu Huimin, Yong Rita, Tan Selen, Chang Joyce, Gan Linda, Yap Eric
Defence Medical Research Institute, Defence Science and Technology Agency Clinical Research Centre, 10 Medical Drive, Singapore 117597, Republic of Singapore.
J Hum Genet. 2002;47(11):623-31. doi: 10.1007/s100380200096.
Microsatellite (short tandem repeat) markers are useful tools for genetic linkage analysis because of their high frequency of occurrence in eukaryotic genomes, ease of typing, and high polymorphism content. To establish a panel of microsatellite markers useful for genome-wide screens in the Chinese population, we determined the heterozygosities and allelic frequencies of a widely used set of 285 markers in 208 individuals of Han Chinese descent. Although the median heterozygosity level in our Chinese population was 0.72, only 63.6% of these markers have a heterozygosity of at least 0.7, compared with 90.8% in the original Caucasian sample. The significant difference in heterozygosity and allelic frequencies between populations suggests that markers should be optimally selected for each study population to maximize information content and power.
微卫星（短串联重复）标记因其在真核生物基因组中出现频率高、分型容易且多态性含量高，而成为遗传连锁分析的有用工具。为建立一组对中国人群全基因组筛查有用的微卫星标记，我们测定了285个广泛使用的标记在208名汉族后裔个体中的杂合度和等位基因频率。尽管我们中国人群中的杂合度中位数水平为0.72，但这些标记中只有63.6%的杂合度至少为0.7，而原始高加索人样本中的这一比例为90.8%。人群之间杂合度和等位基因频率的显著差异表明，应为每个研究人群优化选择标记，以最大限度地提高信息含量和效能。
